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GENE - TERM ANNOTATION REPORT

RGD ID: 68954
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wfs1
Name: wolframin ER transmembrane glycoprotein
Acc ID: DOID:9351
Term: diabetes mellitus
Definition: A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (DO)
Definition Source(s): http://www.who.int/diabetes/action_online/basics/en/ "DO" "DO", https://en.wikipedia.org/wiki/Diabetes_mellitus "DO" "DO", https://medlineplus.gov/diabetes.html "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9686693 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Wfs1onsetIMP 149735331RGD  
Wfs1 ISOWFS1 (Homo sapiens)8694404RGDDNA:missense mutations:cds:p.R456H, p.R611H (rs1801206, rs1801214) (human) 
Wfs1 ISOWFS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetesPMID:10521293 PMID:10624825 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12707373 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19344068 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:22797899 PMID:23429432 PMID:23595122 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24497219 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25497598 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27395765 PMID:27468121 PMID:27617222 PMID:28432734 PMID:28492532 PMID:28502252 PMID:28559085 PMID:29207974 PMID:29529044 PMID:29563951 PMID:30014265 PMID:30180840 PMID:30311386 PMID:30957632 PMID:31264968 PMID:31343797 PMID:31391115 PMID:31567480 PMID:31600780 PMID:31638168 PMID:31765440 PMID:31850070 PMID:32179840 PMID:33046911 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34404380 PMID:34573359 PMID:34746052 PMID:34789499 PMID:35452662 PMID:35469785 PMID:35472603
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